Variant #0000007743 (NC_000001.11:g.241497928_241497930dup, FH(NM_000143.3):c.1431_1433dup)
| Individual ID |
00001324 |
| Chromosome |
1 |
| Allele |
Unknown |
| Affects function (as reported) |
Effect unknown |
| Affects function (by curator) |
Effect unknown |
| DNA change (genomic) (Relative to hg38 / GRCh38) |
g.241497928_241497930dup |
| Reference |
- |
| DB-ID |
FH_000004 See all 2 reported entries |
| dbSNP ID |
- |
| Variant remarks |
This is an in-frame duplication that has been observed with several different pathogenic FH variants in multiple affected individuals with FHD. In the homozygous state, this variant does not likely cause FHD, but additional data are needed to prove that conclusively. Although it has been observed as heterozygous in individuals with features of HLRCC, it occurs in the general population too frequently given the rarity of this condition. For these reasons, this variant has been classified as Likely Pathogenic for FHD. However, it is not likely to confer risk for HLRCC. |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Jesica Ramirez-Hospital Central de Mendoza |
| Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
| Created by |
Instituto Nacional del Cancer |
Variant on transcripts
Screenings
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